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GERRY DEL

Ivemark's/Asplenia Syndrome or Right Isomerism:

At my one year old healthy baby checkup the doctor noted something unusual about my heart. The doctor had failed a medical exam in which a baby had been presented who had his heart on the wrong side of the chest. The doctor, having this past experience, was quick to catch the same problem with me. The condition is known as dextrocardia. Dextrocardia normally means that the apex of your heart is pointing to the right instead of the left.

The doctor, being very proactive, started researching the condition, and found that Dextrocardia is often accompanied by another condition known as Situs Inversus. Situs Inversus means that the all your internal organs are oriented in an opposite direction from the norm. After an exam, they discovered I had Situs Inversus.

More time went by and the doctor came back with another observation. Apparently, there are several types of Situs Inversus; Situs Inversus Totalis and Situs Inversus Ambiguous.

In Situs Inversus Totalis, the person's internal organs are an exact mirror image of the "normal" orientation. With this condition, the health conditions are usually not serious.

However, in Situs Inversus Ambiguous can present serious health problems. Situs Inversus Ambiguous can be broken down into two categories. There is Situs Inversus Ambiguous with Right Isomerism, and Situs Inversus Ambiguous with Left Isomerism.

In Isomerism, the body not only reversus the organs, but it also attempts to duplicate one side of the body. It turns out that I had Right Isomerism.

In Right Isomerism, my right side was duplicated. Since the spleen is on the left side of the body, the body does not create a spleen, or creates a very small hypoplastic spleen. A spleen is critical for fighting off major infections, particularly the pneumococcal variants of pneumonia and flus.

Also, the right side of the body has a three lobed lung, while the left side has a two lobed lung. In my case, I had two lungs that had three lobes each. Another feature of this condition is called "midline liver placement". Generally, this means that the lobes of the liver are identically sized and in the center of the body instead of being in its normal position.

One more feature is that the patients internal organs can become malrotated, meaning that they rotate in the opposite direction. This can cause a serious problem known as midgut volvulus, which can be deadly.

Lastly, Situs Inversus Ambiguous with Right Isomerism has the potential to have many deadly congenital heart defects (CHDs). Patients can have a combination of CHDs such as atrial septum defect, total anomolous ventral drainage, transversal of the great vessels, coarctation of the aorta, mitral valve prollapse, bicuspid aortic valve, aortic stenosis, and pulminary atresia.

In my case, I was lucky. I had some of the minor defects such as slight coarctation of the aorta, bicuspid aortic valve, aortic stenosis, and mitral valve prollapse.

The collection of all the traits above is known as Ivemark's Syndrome (named after the doctor who discovered it) or Asplenia Syndrome, the newer name used by many doctors. Ivemark's Syndrome accounts for 1% of the CHDs in any population, yet it accounts for 5% of the CHD deaths, which makes it very clear how deadly this syndrome is.

The expectations for life span vary. In the past, before modern surgical procedures, 90% of the children died from this syndrome within the first year of life. Now, with modern surgical procedures such as the Fontan, 10% to 35% of the children are surviving to the age five. Statistics for survival after age five are not known, but it does not look very good.

I have been searching for others like me for several years now. In the beginning, I only found parents of children who had passed away. One day I decided to create a message board for the syndrome. I started putting my information on any CHD site that I could find, in the hopes that others would see me and go to my message board.

I am 36 years old, and I have not met anyone older than me yet who has the syndrome. When I went to genetic counseling, we were told that they had not found a case of a person with Ivemark's Syndrome reaching reproduction age. Gladly I can tell you that I have three children who are very healthy.

I have found two other adults, both of them who had serious heart defects and who have had numerous surgeries to correct those defects. They are both young compared to me and their health is still a very serious problem for them.

My message board now had 39 members, mostly parents of children with the syndrome, some who survived and some who did not. If you are an Ivemark patient or a parent of an Ivemark patient, please come and visit us at our site. Here is the web address:

http://health.groups.yahoo.com/group/asplenia_ivemarks_syndrome/

In addition, I have recently submitted incorporation papers to create a non profit organization for the syndrome. We are hoping to help the kids of the syndrome out.

My success stories are that I have run a half marathon. For a person with CHDs this was a great challenge. I'm again in training and hoping to run another half marathon this year, and then try to push on to a full marathon.


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